Varaico: Literature-Extracted Genetic Variants

WFIKKN1

27 papers

RefSeq Summary

This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domai...

Pfam Domains

WAPaa 29–78UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Ig_3aa 185–267UCSCImmunoglobulin domain

Kunitz_BPTIaa 299–352UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Kunitz_BPTIaa 358–410UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

HGNC Previous Symbol

C16orf12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_053284.3

p.V360L

c.1078G>C

Surrounding Variants

1 paper

NM_053284.3

p.V360L

c.1078G>T

1 paper

NM_053284.3

p.G366V

c.1097G>T

1 paper

NM_053284.3

p.R374C

c.1120C>T

1 paper

NM_053284.3

p.C334Y

c.1001G>A

1 paper

NM_053284.3

p.P330L

c.989C>T

1 paper

NM_053284.3

p.D320H

c.958G>C

1 paper

NM_053284.3

p.R402fs

c.1204_1205fs

1 paper

NM_053284.3

p.R402C

c.1204C>T

1 paper

NM_053284.3

p.R402delFs

c.1205delG

1 paper

NM_053284.3

p.P412R

c.1235C>G

1 paper

NM_053284.3

p.P301L

c.902C>T

1 paper

NM_053284.3

p.D288N

c.862G>A